Western Blot (WB)
(Western blot analysis of ALSFTD in HeLa cell lysate with ALSFTD antibody at 1 μg/ml.)
Rabbit ALSFTD Polyclonal Antibody | anti-ALSFTD antibody
ALSFTD Antibody
Western Blot (WB)
(Western blot analysis of ALSFTD in HeLa cell lysate with ALSFTD antibody at 1 μg/ml.)
Western Blot (WB)
(Western blot analysis of ALSFTD in HeLa cell lysate with ALSFTD antibody at 1 μg/ml.)
Immunocytochemistry (IHC)
(Immunocytochemistry of ALSFTD in A-20 cells with ALSFTD antibody at 10 μg/ml.)
Immunocytochemistry (IHC)
(Immunocytochemistry of ALSFTD in A-20 cells with ALSFTD antibody at 10 μg/ml.)
NCBI and Uniprot Product Information
Observed: 52 kDa
NCBI Description
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
Uniprot Description
C9orf72: Defects in C9orf72 are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS). An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Caused by a large expansion of a GGGGCC hexanucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 9p21.2
Cellular Component: actin cytoskeleton; autophagic vacuole; cytoplasm; cytoplasmic vesicle; endosome; extracellular space; intercellular bridge; lysosome; nucleoplasm; nucleus
Molecular Function: protein binding; Rab GTPase binding
Biological Process: autophagy; endocytosis
Disease: Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1
Research Articles on ALSFTD
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Product Notes
The ALSFTD c9orf72 (Catalog #AAA154379) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The ALSFTD Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's ALSFTD can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB), Immunocytochemistry (ICC). ALSFTD antibody can be used for the detection of ALSFTD by Western blot at 1 - 2 mug/mL. Antibody can also be used for immunocytochemistry at 10 mug/ml. Researchers should empirically determine the suitability of the ALSFTD c9orf72 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "ALSFTD, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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